Medicina
Saila
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaCentro de Investigación Biomédica en Red sobre Enfermedades Raras -ko ikertzaileekin lankidetzan egindako argitalpenak (89)
2024
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Apolipoprotein E-ϵ2 and Resistance to Atherosclerosis in Midlife: The PESA Observational Study
Circulation Research, Vol. 134, Núm. 4, pp. 411-424
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Association between exposure to air pollution and blood lipids in the general population of Spain
European Journal of Clinical Investigation, Vol. 54, Núm. 2
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Cross-sectional association between severe periodontitis and diabetes mellitus: A nation-wide cohort study
Journal of Clinical Periodontology, Vol. 51, Núm. 4, pp. 368-379
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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Neuromuscular Disorders, Vol. 34, pp. 1-8
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Engineered T cells secreting anti-BCMA T cell engagers control multiple myeloma and promote immune memory in vivo
Science translational medicine, Vol. 16, Núm. 734, pp. eadg7962
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High prevalence of venous thrombotic events in Cushing’s syndrome: data from ERCUSYN and details in relation to surgery
European Journal of Endocrinology, Vol. 190, Núm. 1, pp. 75-85
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Long-term use of mepolizumab in a case of chronic eosinophilic pneumonia: extending interval dosing
Journal of Asthma, Vol. 61, Núm. 1, pp. 69-71
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Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation
Neuroradiology, Vol. 66, Núm. 3, pp. 389-398
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Women with Gaucher Disease
Biomedicines, Vol. 12, Núm. 3
2023
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A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2
Human Mutation, Vol. 2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years
GeroScience, Vol. 45, Núm. 1, pp. 543-553
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Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Genome Medicine, Vol. 15, Núm. 1
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Diagnosis, evaluation and monitoring of acute hepatic porphyria
Medicina Clinica
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Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver
Molecular Genetics and Metabolism Reports, Vol. 35
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Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973
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Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: New splicing events
Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 615-619
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High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome
European Journal of Neurology, Vol. 30, Núm. 2, pp. 538-547
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Increased FOXJ1 protein expression is associated with improved overall survival in high-grade serous ovarian carcinoma: an Ovarian Tumor Tissue Analysis Consortium Study
British Journal of Cancer, Vol. 128, Núm. 1, pp. 137-147
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Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma
Genes, Vol. 14, Núm. 7